Update: Watch and Wait

Since my last blog post I’ve had three doctor appointments and one canceled appointment (not by my choice). If you remember my post “The Remote“, I have been having more symptoms lately and have not been feeling so well. I have been really struggling trying to go to school and do my work in lab while feeling so weak and sick.

My first appointment was with an electrophysiologist, a cardiologist who looks at the heart’s electrical rhythm. My heart has been slowly developing more and more PACs which are turning into runs of SVTs. They feel absolutely horrible. As if my heart is trying to flip-flop out of my chest and I would really like for it to stop. I am trying to be proactive and get treatment started NOW, before it gets worse. Plus, I really wanted to stop taking beta-blockers and lessen the amount of medications I take.

This appointment pretty much killed my hopes though. The doctor said, for right now, that there wasn’t anything that could be done for the runs of SVT. He offered a new anti-arrhythmic  medication, but that seemed counter-intuitive to my desire of getting OFF of the medications. Plus I’m really afraid to add more and what the long-term consequences would be. When I told him I wanted to get off the meds, his response was: “There is 0% chance that you will be able to get off your heart medication.” Oh joy. Happiness. I think, the most frustrating aspect of this appointment, however, was that he didn’t seem to realize that I wasn’t seeing him for my dyasautonomia. Electrophysiologists don’t treat dysautonomias, which I knew, but I doubt that he believed I knew that. He spent very little time addressing my runs of SVT which was why I made the appointment in the first place. But at any rate, I am now on a “watch and wait” path. Basically, I am just waiting for the SVT runs to get worse or to progress to a different arrhythmia before we treat them. But it really really sucks dealing with unpleasant symptoms and not being able to do anything about it.

My second appointment was with my urologist. I was planning on canceling this appointment. I had made a compromise to myself that if I went to the electrophysiology appointment, I would cancel the urology one (I really really am not good about being a patient. I tend to ignore my health for as long as I can get away with it). But then I couldn’t rationalize canceling an appointment that dealt with something I really have been having trouble with. My  urine has been very dark lately (I’m not dehydrated!). It’s been much more frequent and persistent than normal and that usually means blood.

So I went to the appointment and had the urine test and it showed… Blood.

Shocked? I wasn’t. This is the 3rd time that I have been to this doctor’s office but the first time that they saw the hematuria for themselves. Finally they didn’t have to take my word for it anymore (doctors hate having to take a patient’s word for anything). Unfortunately, I was labeled “our mystery patient”. They don’t know where the blood comes from and why it’s happening. Right now we’re doing a “watch and wait” thing (starting to see a trend?). If my urine gets darker then we will repeat the CT scan and cystoscopy. I’m really really hoping it doesn’t get darker (I totally ignored the one time it did. It was only once though!!).

Finally, my third appointment was with Neurology. Everything has been fairly stable on that front and this appointment was just a check-up one. I did get a referral to an ophthalmologist though because my eyes have been getting more and more blurry.

The appointment that was canceled was suppose to be with my geneticist. I need to get my MRA scans scheduled, but due to the genetics office moving, my appointment was canceled. I am getting referred to a Marfan’s (another vascular CTD) clinic doctor instead. Loeys-Dietz patients need these scans every year or two to make sure that there are  no new aneurysms and no growth in current aneurysms. That’s the key to treating Loeys-Dietz: catching and treating the aneurysms before they kill me. In other words… Watch and wait.

So that’s my life for you: “Watch and wait”. While trying to juggle the appointments I do have, my symptoms as they worsen, and trying to be a full-time PhD student. It’s no wonder I’m so exhausted.

 

 

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Life, Cardiologists, and Stuff

The past few weeks have been hectic. Since moving to a new state I have been seeing new doctors and new specialists. This always seems to result in my seeing even more specialists and, if I’m even more unlucky, my needing tests.

When last we met I was about to have a colonoscopy and a cystoscopy (gulp). Both went well and both were normal. I had a feeling the colonoscopy would be as I hadn’t been having bad GI symptoms for quite some time now. The cystoscopy being normal is both good and bad though. There’s nothing wrong with my bladder and I definitely don’t have a tumor (yay!) unfortunately that means that my hematuria is probably coming from my kidneys (boo!).

I now fully understand what people mean when they say it feels like they are peeing shards of glass after a cystoscopy. Fun. Honest. You should try it.

But whatever. For now I get to check urologist, gastroenterologist, and neurologist off my “Seeing anytime soon” list.

Meanwhile, I see a neuro-muscular specialist in a little over a week. That appointment has me very nervous. Hopefully I will get an answer as to why my muscle enzymes become mildly elevated at times. Preferably without any painful tests.

I did see my cardiologist last week. I’m still wearing the effects of that appointment:

heart monitor

A handy-dandy Event Monitor

Apparently if you say things like “I feel like I’ve been having more palpitations lately” or “my last monitor showed a lot of PACs, PVCs and SVTs” it will earn you one of these magical devices. Who knew? At least it’s only for 7 days… *sobs*

I really do hate Event Monitors. Mostly because I end up with horrible reactions to the electrodes.

Yeah… The hatred is strong with these things.

Oh well. As far as chronic illness perks go, this really isn’t too awfully horrible… (Do I sound convincing?)

Life goes on. I am almost done with my first year of PhD school. I hadn’t quite realized how difficult this PhD program was going to be (hence why my blogging has slowed down to one post a month… I will do better…). On my worst days though I curl up into a ball, cry, and curse my luck at having to juggle what feels like a full-time illness while studying molecular biology. But I feel as if there may finally be light at the end of the tunnel. At least, for now, I’m fairly certain I won’t fail out of the program.

Sometimes, though, it’s just very hard to not let my illness be an easy excuse to skip class/lab work and sleep for 24 hours.

Thankfully that’s what weekends are for.

The “Law of Medical Tests” Part II

In the past I have talked about the Law of Medical Tests. This law (which may only pertain to me) states that in any given number of medical tests, one will be abnormal. All too often, it will be a completely random one that can’t really be explained by my having Loeys-Dietz.

So what was this round of normal/abnormal tests you may ask?

Well, like last time, this started with a nephrology appointment. The nephrologist ordered a round of testing before I even saw her. Most of it was routine and was normal. Including the thyroid tests (Stop testing my thyroid!). My vitamin D, however, was low. I already knew that the levels weren’t where they should be. I’ve had that test before and it was low then too. This really isn’t uncommon and probably half the people who are tested will show low Vit. D levels. The problem with this result, however is how far it dropped. Last time, my result was 29 with the lower limit being 30. I wasn’t concerned with it being only one point out of range. Plus, it’s not a problem till it gets below 20 anyway. This time though it was 17. Well… I guess that’s a problem now huh?

I think I’ll just ignore it till my appointment at the Bone Metabolism Clinic in June.

But at any rate, that should have fulfilled the Law right? That’s my abnormal test result right?

Right?!

Nope.

I also had to do a 24 hour urine test which measured different electrolyte levels in my urine. Now, for anyone who’s ever done this test, you know that it sucks. Really sucks. Like really really sucks.

I had a jug of my own urine in my fridge.

12737093_10153737473348673_1616472325_o

This is what nightmares are made of…

I was especially frustrated with this test because I was fairly certain that it would come back normal.

Ha.. funny…

Apparently I have elevated levels of calcium and magnesium in my urine. Wonderful. Fan-freaking-tastic. Loving it… Not.

So what does that mean? Good question. So what do I do about it? No clue. What’s next? Umm… Well, I got referred to a urologist. Another specialist. I am not amused.

Seriously though, I would like to give this disease back. It’s not meeting my requirements for a semi-normal and reasonably easy life.

Am I Strong Enough?

I’m a little overwhelmed.

For nearly a year now I’ve pretty much had a break from the “patient world”. I went to doctor appointments but they were rare and only once every couple of months. Each appointment was an “ending” since I was moving. It was nice to be able to go to a doctor with the attitude that I wouldn’t see that doctor again. I almost felt like a normal healthy person who doesn’t have 5-10 different specialists and weird tests scheduled that most people haven’t heard of.

I felt healthy and normal.

So now that I’ve moved and entered into a huge medical hospital community for my health insurance and now that I have a diagnosis to give to the doctors everything has become so much more real. I don’t know how to handle it. I don’t know how to join my two worlds into one. How do you bring the “weak vulnerable patient” world to the “confident hard-working PhD student” world? I don’t know..

Today, for example, I was studying and working on my research and I was freezing. So I took my temperature and it read 96:

I gotta admit though that it is nice to have validation of what I'm feeling..

I gotta admit though that it is nice to have validation of what I’m feeling..

Ok. So I have a reason to feel like I’m freezing. But it’s distracting and I need to take care of it and that’s going to interfere with my work. But whatever. It is what it is. I took a bath to warm up and that worked but way overshot the mark and my temperature went up to 99.4.

Woops

Whoops..

I felt like crap. The sudden change made me feel horrible but I ignored it and went on studying, trying to make up the time I lost with the bath.

But this is the thing that worries me the most: Am I actually really weak? I’m I just using this illness and how poorly I feel as an excuse? Does everyone feel this way and really they’re just so much stronger and better at getting through it and hiding it than I am?

So maybe that’s why I don’t want to combine my two worlds. I’m afraid of being looked at as weak. I’m afraid that people will automatically lower their expectations of me. Most of all, I’m afraid that I really am weak and that if anyone stepped in my shoes they would achieve so much more than I have and could, but with a lot less tears and pain and insecurity.

I think soon though, I won’t have a choice. I’ve entered back into the “patient” world. In less than two weeks I have three MRAs, one echocardiogram, and a cardiology appointment scheduled. After that I have a neurology and GI appointment. I am also supposed to schedule a glucose tolerance test at some point too. It’s a lot and a bit overwhelming with the work that I already have from my “PhD student” world.

At this point, I just really don’t know what to do or how to handle it. I’m taking it one day at a time and praying that everything works out.

I just really really want to be strong enough for everything.

I Slept The Day Away

I’ve been exhausted. Like spend-99%-of-my-time-wanting-to-cry-because-I’m-so-tired exhausted. PhD school is exhausting with a lot more work involved than I knew. For example: Monday through Friday, I wake up in time for my 8am class which lasts till 10am, I then walk to the lab where I do my research till 4-5pm. Somewhere in there I need to find time to study (Did I mention that anything below an 80% is considered a failing grade?). That alone is exhausting.

But for a Loeys-Dietz Syndrome patient, and a newly diagnosed one at that, things start to get a little more complicated. So let’s take away the fact that LDS itself causes pain (pain takes up so much energy… It’s unbelievable..) and focus just on the doctor appointments and tests required.

I haven’t had any scans since getting diagnosed and it’s starting to drive me insane. I know now that I’m more likely to have aneurysms. I know that I’ve had doctors who thought that I might have an aneurysm (which never got checked). I know that my grandfather currently has three aneurysms. I do NOT know, however, IF I have any aneurysms. And that’s driving me insane. I just want to know what little ticking time bombs I’m living with… I want to move on with this diagnosis and my life.

So I made an appointment with a doctor at student health services to get the scans set up, along with an echocardiogram, and get referrals to any specialists I might need. The appointment started off with the nurse saying “Oh, we don’t even have Loeys-Dietz listed in our system as a disease”. That’s when I started to have my doubts. But I gave the nurse, to give to the doctor, my latest genetic report, my genetic results, and a few papers I had printed off about Loeys-Dietz.

To my surprise, the doctor came in after having clearly read the papers. Mind you, she was still very lost about what Loeys-Dietz was and how to handle it, but she was obviously very interested to find out (read “she ordered a lot of tests”. My thyroid’s fine. I have proof. Again). But the end result of this first appointment, along with the follow-up one I had had two weeks after, is that I now have three MRAs scheduled for the end of the month and many specialist appointments in the near future. The doctor wants to set me up with a: cardiologist, neurologist, neurovascular surgeon, pulmonologist (this one has a bit of a backstory that I’ll go over at another time), and a gastroenterologist. She also tried to set up an appointment with a rheumatologist but I said no to this one.

But the point I’m trying to make here, is somehow I need to do the PhD thing between 8am-5pm every day while taking time to study after 5pm (because it’s definitely not happening before 8am). And somehow finding time somewhere to see these specialists and get the scans. Doing a PhD program and being a full-time patient is intense.

I’m exhausted.

So today I slept the entire day and it felt wonderful.

New Cardiology Appointment

For around two years now I’ve had the same cardiologist. Maybe in the beginning she was a good doctor. That was when she thought I was dying and she acted pretty quickly to get the proper tests. Once the cardiac cath. showed that I was not dying, however, she suddenly seemed to have lost interest in trying to help me. I guess I lost all patient-appeal when I was no longer a patient with a terminal illness. So anytime I went to her with a problem, she would just increase the dosage of my meds. After one particularly horribly disappointing appointment, I found myself crying in a stairwell. In that stairwell I finally decided that I was never going back.

So I found a new cardiologist, with whom I had my first appointment today.

The appointment started off with a nurse getting some background information. I usually hate this part because it’s awkward. “Do you have a history or urinary tract infections?”…”Er, no… but I’ve had blood in my urine… it wasn’t an infection. I didn’t have kidney stones either…yeah…” It’s hard to give a medical history when things don’t fit a normal picture. So once we got past that awkwardness (and really, it’s not hard for me to make something awkward), she took my bp, pulse, and an EKG and then left me in the room to wait for the doctor.

Who appeared within a minute (That happens?! I was totally expecting to live and die in that room before he came in…). I however, became instantly wary when he asked why I needed a cardiologist. He asked what a 25 y/o was doing there. He asked who referred me. I was terrified that I had found yet another doctor who seemed to already be convinced that I was fine before even examining me.

Turns out it was just his method of trying to get to the reason I was there… Once he started looking through the records he had (most of them from the geneticist) his first comment was “you’re a complex case” While that’s not what everyone wants to hear, it is much better than him calling me a hypochondriac. So I was a bit relieved to hear it.

Then we went through the “Oh my geneticist feels strongly that I have either Classic or Vascular EDS and is testing me” bit. He asked me if I was flexible. I performed some circus tricks. He cringed. He then tried to tell me how horrible vascular type can be and I reassured him that I have a strong family history of aneurysms and therefore already know.

It’s freaky to hear your doctor say “Poor…” over and over while reading your report.

His commentary was pretty funny though: “You had a DEXA scan?!?…oh.. it showed something…” He needs to realize I’m a young person with old diseases or he’s going to be in for some unpleasant surprises. I can’t wait till he reads my GI scopes reports (although I’m not sure why a cardio would be reading those…).

So I finally have a cardio who seems to be able to handle “complex cases” without getting scared and without throwing drugs at me hoping they’ll do something. In fact, he doesn’t even like that I’m on the beta blockers at such a young age. Unfortunately all that means that I need to have a stress test. I’m definitely afraid of this test. I know it’s going to be unpleasant at the very least. Oh well. I’m still hoping for some answers and maybe a bad stress test will give me a chance at a solution/cure. Silver lining?

The 2nd Genetics Appointment: Part B

So a little time has passed and I’ve digested more of what was said and tested for during the second genetics appointment. Also, most importantly, I got my appointment summary. My geneticist likes to keep her opinions to herself. At my first appointment I was told that it is much easier to diagnose something than to take back a diagnosis. This makes sense, but it’s still very hard for me to go so long having no idea what she’s thinking and what diagnoses she’s considering. Luckily, she writes appointment summaries and sends them to my PCP. I get them from him and can then get a better idea of what’s going on.

One thing about this latest report that amazed me is how much she knew about my previous health history. She must have read everything I’d given her last time.  Seriously, she actually wrote out the numbers of all my abnormal CPK tests (probably because I’ve only had like 4 or 5 of them haha). Reading the medical history section is intimidating. Seeing all your health problems written out in paragraph form and realizing that there’s a lot going on is not the most comfriting. “She was found to have tricuspid regurgitation”…”She was diagnosed with spina bifida occulta”…”She underwent an EEG and that was reportedly showing some slowing in temporal lobe”…”She was noted to have extra ribs”…”she was diagnosed with osteopenia”…On and on and on. I swear I’m not high maintenance.

After the medical history part, comes the physical examination write up. One thing you never want to see in a genetics report….

genetics compliment

…is a compliment and I sure got a lot of them. Which brings us to the next and most important portion of my report: the clinical impression portion. She still seems to think that Vascular EDS  (“Given the patient’s skin, joint and hyperelasticity of the skin and excessive bleeding…”) is a possibility but that I also have the presentation of the Classical type. So it seems like I’m definitely getting tested for V-EDS. Lovely. So the prevailing thoughts on a connective tissue disease are that I have V-EDS or C-EDS. She, however, also lists that I have overlap features of Marfan syndrome, Loey-Dietz syndrome, along with other connective tissue disorders. Apparently the osteopenia adds collagen 1 defects, tenascin XB, and Sticker syndrome to the mix.

She still maintains that I have a comorbid disease along with the probable EDS. Unfortunately the comorbid disease is making things rather confusing (“Comorbid entities and a blend of phenotype is a concern in this patient.”) A chromosomal abnormality seems possible. I’m not sure about that myself. I just don’t seem to fit the phenotype for that one, although she does state that it can be variable in phenotype. She seems to be more insistent on the possibility of a mitochondrial disease or an inborn error of the metabolism (IEM) disease. In fact, she even mentioned IEM as a possibility in the primary diagnoses section.

Over all, I guess we’re narrowing the possibilities down a bit more, but I really am impatient (I don’t put the “patient” in patience). I just want to know what I’m dealing with and move on with my life. Giving something a name really makes a huge difference in being able to start accepting it.

The 2nd Genetics Appointment

I finally had my genetics follow-up and am not sure how I feel about it. At my last appointment, so many different possibilities were listed as potential diagnoses. I was confronted with the possibility that not only do I have a connective tissue disease (EDS), but I may also have something else as a comorbid condition.  The doctor listed so many possibilities: Inborn Errors of the Metabolism, Mitochondrial Disease, Alport Syndrome, liver disease/cancer, thyroid disease, Polycystic Kidney Disease…etc. Essentially, instead of getting answers, I got more questions (and an intense urge to consult Dr. Google). My second genetics appointment was very much the same.

I thought that I would start to get things narrowed down at my second genetics appointment. That’s what the first round of testing was right? To be able to rule out some things, pin-point other things? Turns out I was partially right. What I didn’t account for was that for everything that was ruled out, a new diagnosis was considered. I don’t have Polycystic Kidney Disease, but now we’re testing for porphyria. My Alpha-Fetaprotein test was normal, so we’re testing Carbohydrate Deficient Transferrin (I don’t drink).  The three tests that were abnormal didn’t even yield me any answers. They were just repeated.

So what did I learn? As previously stated, I don’t have Polycystic Kidney Disease. I also don’t have Alport Syndrome or thyroid disease (seriously.. I feel like I’m the ONLY person who doesn’t have thyroid disease). I probably don’t have a fatty acid oxidation disorder. I’m fairly certain I don’t have liver cancer (I still have no idea what made her run that test).

So what is she testing me for now? She re-ran the three abnormal tests: urine organic acids, very long chain fatty acids, and acetylcarnitine profile, along with a bunch of other tests (eight tubes of blood and two urine samples). I think ultimately the mystery disease will either end up being some rare metabolic disorder or a mitochondrial disease. She’s testing me specifically for MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy) because of my GI symptoms, but I really don’t think I have that type. I’m not sure about my having porhyria either. Some things fit and some don’t. I think whatever I do end up having though is going to be an unusual presentation.

One perk about having my appointment at Children's is that the blood draw rooms are awesome.

One perk about having my appointment at Children’s is that the blood draw rooms are awesome.

I loved the frog room :D

I loved the frog room 😀

Along with the testing, the geneticist performed another exam. Yay for more pictures! This time she only took a picture of my hand, elbows, and knees. This makes twice she’s taken these same pictures. She also went over my flexibility again, along with reflexes and eye movements. Apparently I have slightly “brisk” reflexes, tremors, and a nystagmus. Who would have thought? Not sure what all that means though and honestly it could mean nothing.  Hopefully I’ll get at least a couple of answers when I read the appointment summary letter. Till then, I’m taking this whole experience as a crash course in patience.

The Glass Ball

It’s been a little while since I posted. As my last post alluded to, life certainly doesn’t stop. It caught up with me for a few weeks and left me incredibly busy. I am applying to PhD programs, working, doing research, and went to visit my mom for a little to help her with some things around the house. So with all that, I put my health on the back-burner. Plus I needed a break. I’m lucky in that I can escape from the realities of my conditions for a little while. This doesn’t mean that I can act fully normal. I still get tired and still have pain and I know that pretending to ignore it will catch up with me.

My mom compares life to juggling. She says that the health ball is made of glass. Once you let it drop, it breaks and you’re done. No more juggling. I think my little hiatuses from my health are like tossing that glass ball really really high. I can ignore it for a while. But once it starts to come back down I have to scramble to catch it and return to my normal juggling.

So I just caught my ball. It’s pretty and shiny and I’m trying to get back into the swing of things with that stupid ball. I gave bloodwork today, and as usual, it was off just a little. I have low osmolality. I have no idea what that means, but I hope we can just ignore it (maybe I’m not ready to start juggling again). I really don’t want to have to do more tests. I also recently called my geneticist to learn about the results of that bloodwork. My acylcarnitine profile, urine organic acids, and very long chain fatty acids were abnormal. I have absolutely NO idea what that means either. I don’t even know how or what was abnormal about them. So I asked what the next step was going to be. Apparently I’m either going to get genetic testing to explore the different types of EDS or an aneurysm genetic work up. I think they might do both though. I was also told that mitochondrial diseases are still on the table due to abnormal tests. I may have to repeat those tests. Overall EDS and mitochondrial disease seems to be the two diagnoses that I’m looking at at the moment. Hopefully I’ll find out more at my my appointment next week.

After the genetics appointment, I have appointments scheduled with a neurologist, gastroenterologist, ophthalmologist, nephrologist, and my general practitioner. I may find a new cardiologist. I better learn how to juggle again.

Life Doesn’t Stop With an Illness

This fact is how I found myself going to three doctor appointments in the last 2 or 3 weeks while studying/taking the GRE, doing lab research for my major, and working. One or two of those things would prove challenging for anyone. But combine all of them? Yup, I was a nervous, anxious, exhausted mess. It was miserable. I cried. Don’t judge.

So let’s go over the doctor appointments. I had two with specialists (Gastroenterologist and Cardiologist) and one with my family doctor. Unfortunately all of the above have no idea what to do with me.  I shouldn’t really be surprised. This is what happens when you have a rare disease or two (See my genetics appointment post if you don’t remember). Doctors tell you that they haven’t heard of your disease since Med. School. I would be ok with this if they were just honest about not knowing what to do. If they did research to actually be able to help me, or, if they aren’t going to do the proper work, they referred me to a doctor who could potentially help me. I’m tired of living in limbo with a horrible quality of life. Every day should not be this much of a struggle. After my cardiologist appointment I went into a stairwell to cry. Her solution, RIGHT AFTER reading my genetics report and admitting to not knowing the potential diagnoses, was to raise my medication dosage. My GI appointment resulted in a futile ultrasound to check my perfectly normal gallbladder. I had a feeling it would be normal, but I was so thrilled that she was finally looking into other reasons for my pain and weight-loss that I was willing to try it her way. It was a stupid mistake. Tests are exhausting, both physically and mentally. I shouldn’t put myself through that unless I have faith in my doctor and their conclusions/thoughts. As for my Family doctor? Yeah, he spent the first part telling me how complex my case is, how rare my issues are, then spent the second half telling me that my weight-loss could be due to stress and a therapist might help. Sorry. Not good enough. My conditions are known to be associated with complications resulting in weight-loss. Serious complications that I am worried about. And if he had done any research, at all, he would have known this himself. So yeah, I struck out on all three appointments. At this rate, I’m just waiting for my next genetics appointment and am going to go from there. It’s in December so that’s not too long from now. After that, I need to seriously reconsider my current doctors.

Onto the GRE. Have I ever mentioned that I suck at standardized tests? I do. Really really suck. The test was horrible. I cried after that too. Mind you, I’m going to blame poor scores on the fact that the power went out right before my test. So I had to wait an hour before I could even begin it. Sigh. At least it’s over and my scores are good enough that I can still apply to PhD programs. So that’s happy.

Overall, my life has been busy and stressful and hectic. It’s very hard dealing with both my illness and my day-to-day life. I am still trying to find a balance between being sick and being a normal person. I have to make allowances for my health or else I could lose everything. I just hate feeling that making allowances means that I am weak and less than anyone else. I hate having to admit that I am tired or pained or just not feeling well. Unfortunately I can’t separate my life from my health. I have to combine them and I have to make them play nice.